A large-scale newborn hearing screening in rural areas in China

Chen, Guanming; Yi, Xiaomin; Chen, Peiwei; Dong, Jing; Yang, Guoqiang; Fu, Shanlin

doi:10.1016/j.ijporl.2012.08.021

Cited by 18 publications

(16 citation statements)

References 14 publications

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“…Although China health department and government had carried out many programs for prevention and control of thalassemia in some provinces (Guangdong and Guangxi), these programs could only cover a few prevalent area of southern China [16], [17]. Neonatal blood spot screening program for phenylketonuria (PKU), glucose-6-phosphate dehydrogenase deficiency (G6PD) and congenital hypothyroidism (CHT), which started in 1981 by China government, had been perfectly carried out in main rural areas and cities of China mainland [18], [19]. We try to combine β-thalassemia screening with neonatal blood spot screening program to enlarge the coverage of thalassemia screening program.…”

Section: Discussionmentioning

confidence: 99%

High Resolution Melting Analysis: A Rapid Screening and Typing Tool for Common β-Thalassemia Mutation in Chinese Population

et al. 2014

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β-thalassemia is a common inherited disorder worldwide including southern China, and at least 45 distinct β-thalassemia mutations have been identified in China. High-resolution melting (HRM) assay was recently introduced as a rapid, inexpensive and effective method for genotyping. However, there was no systemic study on the diagnostic capability of HRM to identify β-thalassemia. Here, we used an improved HRM method to screen and type 12 common β-thalassemia mutations in Chinese, and the rapidity and reliability of this method was investigated. The whole PCR and HRM procedure could be completed in 40 min. The heterozygous mutations and 4 kinds of homozygous mutations could be readily differentiated from the melting curve except c.-78A>G heterozygote and c.-79A>G heterozygote. The diagnostic reliability of this HRM assay was evaluated on 756 pre-typed genomic DNA samples and 50 cases of blood spots on filter paper, which were collected from seven high prevalent provinces in southern China. If c.-78A>G heterozygote and c.-79A>G heterozygote were classified into the same group (c.-78&79 A>G heterozygote), the HRM method was in complete concordance with the reference method (reverse dot blot/DNA-sequencing). In a conclusion, the HRM method appears to be an accurate and sensitive method for the rapid screening and identification of β-thalassemia mutations. In the future, we suggest this technology to be used in neonatal blood spot screening program. It could enlarge the coverage of β-thalassemia screening program in China. At the same time, its value should be confirmed in prospectively clinical and epidemiological studies.

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Section: Discussionmentioning

confidence: 99%

High Resolution Melting Analysis: A Rapid Screening and Typing Tool for Common β-Thalassemia Mutation in Chinese Population

et al. 2014

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“…In China, approximately 30,000 infants are born with congenital hearing loss per 20 million live births every year [1,2]. Moreover, a similar number are affected with hearing impairment before adulthood.…”

Section: Introductionmentioning

confidence: 99%

The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age

et al. 2013

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BackgroundGiven that hearing loss occurs in 1 to 3 of 1,000 live births and approximately 90 to 95 percent of them are born into hearing families, it is of importance and necessity to get better understanding about the carrier rate and mutation spectrum of genes associated with hearing impairment in the general population.Methods7,263 unrelated women of childbearing age with normal hearing and without family history of hearing loss were tested with allele-specific PCR-based universal array. Further genetic testing were provided to the spouses of the screened carriers. For those couples at risk, multiple choices were provided, including prenatal diagnosis.ResultsAmong the 7,263 normal hearing participants, 303 subjects carried pathogenic mutations included in the screening chip, which made the carrier rate 4.17%. Of the 303 screened carriers, 282 harbored heterozygous mutated genes associated with autosomal recessive hearing loss, and 95 spouses took further genetic tests. 8 out of the 9 couples harbored deafness-causing mutations in the same gene received prenatal diagnosis.ConclusionsGiven that nearly 90 to 95 percent of deaf and hard-of-hearing babies are born into hearing families, better understanding about the carrier rate and mutation spectrum of genes associated with hearing impairment in the female population of childbearing age may be of importance in carrier screening and genetic counseling.

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“…AABR could not be completed on two participants as they were restless and difficult to calm ( Figure 1 ). The high referral rate on one or more of the screening measures is consistent with literature that has also indicated a higher referral rate at the initial hearing screening in comparison with the repeat hearing screening (Chen et al ., 2012 ; Colella-Santos, Hein, De Souza, Do Amaral & Casali, 2014 ). Referral rates have also been documented to decrease with an increase in age (Khoza-Shangase & Harbinson, 2015 ; Van Dyk, Swanepoel & Hall, 2015 ).…”

Section: Resultsmentioning

confidence: 99%

Feasibility of newborn hearing screening in a public hospital setting in South Africa: A pilot study

Kanji

Khoza-Shangase

2016

South African Journal of Communication Disorders

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ObjectivesThe current pilot study aimed to explore the feasibility of newborn hearing screening (NHS) in a hospital setting with clinical significance for the implementation of NHS. Context-specific objectives included determining the average time required to screen each neonate or infant; the most suitable time for initial hearing screening in the wards; as well as the ambient noise levels in the wards and at the neonatal follow-up clinic where screening would be conducted.MethodA descriptive, longitudinal, repeated measures, within-subjects design was employed. The pilot study comprised 11 participants who underwent hearing screening. Data were analysed using descriptive statistics.ResultsThe average time taken to conduct hearing screening using otoacoustic emissions and automated auditory brainstem response was 18.4 minutes, with transient evoked otoacoustic emissions taking the least time. Ambient noise levels differed between wards and clinics with the sound level readings ranging between 50 dBA and 70 dBA. The most suitable screening time was found to be the afternoons, after feeding times.ConclusionFindings highlight important considerations when embarking on larger scale NHS studies or when planning a hospital NHS programme. Current findings suggest that NHS can be efficiently and effectively conducted in public sector hospitals in South Africa, provided that test time is considered in addition to sensitivity and specificity when deciding on a screening protocol; bar recognised personnel challenges.

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A large-scale newborn hearing screening in rural areas in China

Cited by 18 publications

References 14 publications

High Resolution Melting Analysis: A Rapid Screening and Typing Tool for Common β-Thalassemia Mutation in Chinese Population

High Resolution Melting Analysis: A Rapid Screening and Typing Tool for Common β-Thalassemia Mutation in Chinese Population

The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age

Feasibility of newborn hearing screening in a public hospital setting in South Africa: A pilot study

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